Molecular and genetic insights into progressive cardiac conduction disease

AbstractProgressive cardiac conduction disease (PCCD) is often a primarily genetic disorder, with clinical and genetic overlaps with other inherited cardiac and metabolic diseases. A number of genes have been implicated in PCCD pathogenesis with or without structural heart disease or systemic manifestations. Precise genetic diagnosis contributes to risk stratification, better selection of specific therapy and allows familiar cascade screening. Cardiologists should be aware of the different phenotypes emerging from different gene-mutations and the potential risk of sudden cardiac death. Genetic forms of PCCD often overlap or coexist with other inherited heart diseases or manifest in the context of multisystem syndromes. Despite the significant advances in the knowledge of the genetic architecture of PCCD and overlapping diseases, in a measurable fraction of PCCD cases, including in familial clustering of disease, investigations of known cardiac disease-associated genes fail to reveal the underlying substrate, suggesting that new causal genes are yet to be discovered. Here, we provide insight into genetics and molecular mechanisms of PCCD and related diseases. We also highlight the phenotypic overlaps of PCCD with other inherited cardiac and metabolic diseases, present unmet challenges in clinical practice, and summarize the available therapeutic options for affected patients.
Source: Europace - Category: Cardiology Source Type: research

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Conditions:   Hypertension;   Heart Failure;   Hypertensive Heart Disease;   Diastolic Dysfunction Intervention:   Sponsor:   Karolinska Institutet Enrolling by invitation
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Publication date: Available online 9 December 2019Source: American Heart JournalAuthor(s): Kevin D. Hill, H. Scott Baldwin, David P. Bichel, Ryan J. Butts, Reid C. Chamberlain, Alicia M. Ellis, Eric M. Graham, Jesse Hickerson, Christoph P. Hornik, Jeffrey P. Jacobs, Marshall L. Jacobs, Robert DB Jaquiss, Prince J. Kannankeril, Sean M. O'Brien, Rachel Torok, Joseph W. Turek, Jennifer S. Li, For the STRESS Network InvestigatorsFor decades, physicians have administered corticosteroids in the perioperative period to infants undergoing heart surgery with cardiopulmonary bypass (CPB) to reduce the post-operative systemic inflamm...
Source: American Heart Journal - Category: Cardiology Source Type: research
This study suggests that for most, managing CAD with medications alone (the conservative approach) is as safe and effective as the more invasive strategy of cardiac catheterization and opening of the blocked artery. Findings of the ISCHEMIA trial ISCHEMIA followed over 5,000 patients with significant narrowing in one or more coronary arteries. Half of the patients were randomly selected to receive conservative treatment with optimal medical therapy (OMT) and lifestyle changes to treat risk factors such as high blood pressure and high cholesterol. The other half were given OMT and also sent for cardiac catheterization (thre...
Source: Harvard Health Blog - Category: Consumer Health News Authors: Tags: Health Source Type: blogs
As this article notes, researchers have recently suggested that the benefits to heart function observed over many years of stem cell therapies are not in fact due to any action of the cells themselves, not even cell signaling mechanisms such as release of exosomes, but are rather due to an immune response to the transplanted cells. The study reported here illustrates the point by showing some degree of regeneration of injured heart tissue to take place in mice when the debris of dead cells is transplanted. We might compare these findings with the body of work showing that delivery of exosomes can spur cardiac regeneration;...
Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs
AbstractThe aim of this study was to investigate the effects of telemonitored exercise rehabilitation on patients with coronary heart disease (CHD) in China. Ninety-six patients with stable CHD were included and analyzed (48 in telemonitored group and 48 in control group). All patients received routine follow-up, and patients in telemonitored group participated in smartphone-based telemonitored cardiac rehabilitation. Patients ’ demographic information, medical history, diagnosis and treatment of CHD, and laboratory results were collected. The difference of cardiopulmonary exercise testing (CPET), blood test, and ech...
Source: Journal of Cardiovascular Translational Research - Category: Cardiology Source Type: research
AbstractThe use of intramuscular injections is widely recommended to be avoided in patients who are prescribed anticoagulant agents, both oral and parenteral due to concerns of haematoma. Benzathine penicillin G (BPG), administered via intramuscular injection, is a vital treatment component for patients with rheumatic heart disease. BPG must be administered long term (for at least a decade) as part of treatment and alternative options to intramuscular injection are currently limited. Many of these patients with rheumatic heart disease will also require long term or lifelong anticoagulation. Our retrospective, single centre...
Source: Journal of Thrombosis and Thrombolysis - Category: Hematology Source Type: research
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Source: Journal of Thrombosis and Thrombolysis - Category: Hematology Source Type: research
Fight Aging! publishes news and commentary relevant to the goal of ending all age-related disease, to be achieved by bringing the mechanisms of aging under the control of modern medicine. This weekly newsletter is sent to thousands of interested subscribers. To subscribe or unsubscribe from the newsletter, please visit: https://www.fightaging.org/newsletter/ Longevity Industry Consulting Services Reason, the founder of Fight Aging! and Repair Biotechnologies, offers strategic consulting services to investors, entrepreneurs, and others interested in the longevity industry and its complexities. To find out m...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Publication date: 7 December 2019Source: New Scientist, Volume 244, Issue 3259Author(s): Layal LiverpoolCholesterol levels in under-45s linked to cardiovascular disease in later life
Source: New Scientist - Category: Science Source Type: research
Scientists believe an everyday bug commonly found in the mouth could be to blame for dementia, heart disease and diabetes while work is ongoing for a vaccine to kill off the bacteria.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
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